The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis
Abstract Background Rare diseases (RDs) affect less than 5/10,000 people in Europe and fewer than 200,000 individuals in the United States. In rheumatology, RDs are heterogeneous and lack systemic classification. Clinical courses involve a variety of diverse symptoms, and patients may be misdiagnose...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2021-07-01
|
| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-021-01945-8 |
| _version_ | 1818619778856648704 |
|---|---|
| author | Judith Leyens Tim Th. A. Bender Martin Mücke Christiane Stieber Dmitrij Kravchenko Christian Dernbach Matthias F. Seidel |
| author_facet | Judith Leyens Tim Th. A. Bender Martin Mücke Christiane Stieber Dmitrij Kravchenko Christian Dernbach Matthias F. Seidel |
| author_sort | Judith Leyens |
| collection | DOAJ |
| description | Abstract Background Rare diseases (RDs) affect less than 5/10,000 people in Europe and fewer than 200,000 individuals in the United States. In rheumatology, RDs are heterogeneous and lack systemic classification. Clinical courses involve a variety of diverse symptoms, and patients may be misdiagnosed and not receive appropriate treatment. The objective of this study was to identify and classify some of the most important RDs in rheumatology. We also attempted to determine their combined prevalence to more precisely define this area of rheumatology and increase awareness of RDs in healthcare systems. We conducted a comprehensive literature search and analyzed each disease for the specified criteria, such as clinical symptoms, treatment regimens, prognoses, and point prevalences. If no epidemiological data were available, we estimated the prevalence as 1/1,000,000. The total point prevalence for all RDs in rheumatology was estimated as the sum of the individually determined prevalences. Results A total of 76 syndromes and diseases were identified, including vasculitis/vasculopathy (n = 15), arthritis/arthropathy (n = 11), autoinflammatory syndromes (n = 11), myositis (n = 9), bone disorders (n = 11), connective tissue diseases (n = 8), overgrowth syndromes (n = 3), and others (n = 8). Out of the 76 diseases, 61 (80%) are classified as chronic, with a remitting-relapsing course in 27 cases (35%) upon adequate treatment. Another 34 (45%) diseases were predominantly progressive and difficult to control. Corticosteroids are a therapeutic option in 49 (64%) syndromes. Mortality is variable and could not be determined precisely. Epidemiological studies and prevalence data were available for 33 syndromes and diseases. For an additional eight diseases, only incidence data were accessible. The summed prevalence of all RDs was 28.8/10,000. Conclusions RDs in rheumatology are frequently chronic, progressive, and present variable symptoms. Treatment options are often restricted to corticosteroids, presumably because of the scarcity of randomized controlled trials. The estimated combined prevalence is significant and almost double that of ankylosing spondylitis (18/10,000). Thus, healthcare systems should assign RDs similar importance as any other common disease in rheumatology. |
| first_indexed | 2024-12-16T17:42:54Z |
| format | Article |
| id | doaj.art-3f2adbf1ed6c43dda53c57a7164f2da4 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-16T17:42:54Z |
| publishDate | 2021-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-3f2adbf1ed6c43dda53c57a7164f2da42022-12-21T22:22:33ZengBMCOrphanet Journal of Rare Diseases1750-11722021-07-0116114310.1186/s13023-021-01945-8The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitisJudith Leyens0Tim Th. A. Bender1Martin Mücke2Christiane Stieber3Dmitrij Kravchenko4Christian Dernbach5Matthias F. Seidel6Center for Rare Diseases Bonn (ZSEB), University HospitalCenter for Rare Diseases Bonn (ZSEB), University HospitalCenter for Rare Diseases Bonn (ZSEB), University HospitalInstitute of General Practice and Family Medicine, University HospitalCenter for Rare Diseases Bonn (ZSEB), University HospitalDivision of Medical Psychology and Department of Psychiatry, University HospitalDepartment of Rheumatology, Spitalzentrum-Centre hospitalierAbstract Background Rare diseases (RDs) affect less than 5/10,000 people in Europe and fewer than 200,000 individuals in the United States. In rheumatology, RDs are heterogeneous and lack systemic classification. Clinical courses involve a variety of diverse symptoms, and patients may be misdiagnosed and not receive appropriate treatment. The objective of this study was to identify and classify some of the most important RDs in rheumatology. We also attempted to determine their combined prevalence to more precisely define this area of rheumatology and increase awareness of RDs in healthcare systems. We conducted a comprehensive literature search and analyzed each disease for the specified criteria, such as clinical symptoms, treatment regimens, prognoses, and point prevalences. If no epidemiological data were available, we estimated the prevalence as 1/1,000,000. The total point prevalence for all RDs in rheumatology was estimated as the sum of the individually determined prevalences. Results A total of 76 syndromes and diseases were identified, including vasculitis/vasculopathy (n = 15), arthritis/arthropathy (n = 11), autoinflammatory syndromes (n = 11), myositis (n = 9), bone disorders (n = 11), connective tissue diseases (n = 8), overgrowth syndromes (n = 3), and others (n = 8). Out of the 76 diseases, 61 (80%) are classified as chronic, with a remitting-relapsing course in 27 cases (35%) upon adequate treatment. Another 34 (45%) diseases were predominantly progressive and difficult to control. Corticosteroids are a therapeutic option in 49 (64%) syndromes. Mortality is variable and could not be determined precisely. Epidemiological studies and prevalence data were available for 33 syndromes and diseases. For an additional eight diseases, only incidence data were accessible. The summed prevalence of all RDs was 28.8/10,000. Conclusions RDs in rheumatology are frequently chronic, progressive, and present variable symptoms. Treatment options are often restricted to corticosteroids, presumably because of the scarcity of randomized controlled trials. The estimated combined prevalence is significant and almost double that of ankylosing spondylitis (18/10,000). Thus, healthcare systems should assign RDs similar importance as any other common disease in rheumatology.https://doi.org/10.1186/s13023-021-01945-8RheumatologyRare diseasesEpidemiologyVasculitisArthritisMyositis |
| spellingShingle | Judith Leyens Tim Th. A. Bender Martin Mücke Christiane Stieber Dmitrij Kravchenko Christian Dernbach Matthias F. Seidel The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis Orphanet Journal of Rare Diseases Rheumatology Rare diseases Epidemiology Vasculitis Arthritis Myositis |
| title | The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis |
| title_full | The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis |
| title_fullStr | The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis |
| title_full_unstemmed | The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis |
| title_short | The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis |
| title_sort | combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis |
| topic | Rheumatology Rare diseases Epidemiology Vasculitis Arthritis Myositis |
| url | https://doi.org/10.1186/s13023-021-01945-8 |
| work_keys_str_mv | AT judithleyens thecombinedprevalenceofclassifiedrarerheumaticdiseasesisalmostdoublethatofankylosingspondylitis AT timthabender thecombinedprevalenceofclassifiedrarerheumaticdiseasesisalmostdoublethatofankylosingspondylitis AT martinmucke thecombinedprevalenceofclassifiedrarerheumaticdiseasesisalmostdoublethatofankylosingspondylitis AT christianestieber thecombinedprevalenceofclassifiedrarerheumaticdiseasesisalmostdoublethatofankylosingspondylitis AT dmitrijkravchenko thecombinedprevalenceofclassifiedrarerheumaticdiseasesisalmostdoublethatofankylosingspondylitis AT christiandernbach thecombinedprevalenceofclassifiedrarerheumaticdiseasesisalmostdoublethatofankylosingspondylitis AT matthiasfseidel thecombinedprevalenceofclassifiedrarerheumaticdiseasesisalmostdoublethatofankylosingspondylitis AT judithleyens combinedprevalenceofclassifiedrarerheumaticdiseasesisalmostdoublethatofankylosingspondylitis AT timthabender combinedprevalenceofclassifiedrarerheumaticdiseasesisalmostdoublethatofankylosingspondylitis AT martinmucke combinedprevalenceofclassifiedrarerheumaticdiseasesisalmostdoublethatofankylosingspondylitis AT christianestieber combinedprevalenceofclassifiedrarerheumaticdiseasesisalmostdoublethatofankylosingspondylitis AT dmitrijkravchenko combinedprevalenceofclassifiedrarerheumaticdiseasesisalmostdoublethatofankylosingspondylitis AT christiandernbach combinedprevalenceofclassifiedrarerheumaticdiseasesisalmostdoublethatofankylosingspondylitis AT matthiasfseidel combinedprevalenceofclassifiedrarerheumaticdiseasesisalmostdoublethatofankylosingspondylitis |